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GENATLAS PHENOTYPE

last update : 21-10-2009

Symbol	HPLH5
Location	19p13.2
Name	hemophagocytic lymphohistiocytosis, familial, 5
Other name(s)	familial hemophagocytic lymphohistiocytosis 5
Corresponding gene	STXBP2
Other symbol(s)	FHL5
Main clinical features	characterized by hyperactivation and proliferation of T cells and macrophages, fever, hepatosplenomegaly, cytopenia, coagulation defect, liver dysfunction, invariably lethal unless treated by bone marrow transplantation
Genetic determination	autosomal recessive
Function/system disorder	hematology
	hematology
Type	disease

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